Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.

Yanling Ying,Xiaozhen Hong,Jingjing Zhang,Kairong Ma,Xianguo Xu,Faming Zhu

Blood transfusion = Trasfusione del sangue（2023）

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摘要

Two novel FUT1 variants were identified in a Chinese individual with para-Bombay AB phenotype, which can expand our understanding of the molecular mechanism underlying the para-Bombay phenotype and contribute to improving the safety of blood transfusion.

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